Bone Abstracts

Background: OI-V is an autosomal dominant type of OI, which is characterized by recurrent fractures, hyperplastic callus formation and forearm interosseous membrane calcification. Less than 5% of OI patients are diagnosed with OI-V. The 5’-UTR IFITM5 mutation is a single recurrent heterozygous mutation reported in the majority of these patients.Presenting problem: The 2 years old girl was born at term, BW 2880g(P25-50), L 48 cm (P25-50), OF...

see P483....

Bruck syndrome, a disorder caused by bi-allelic mutations in either PLOD2 or FKBP10, is characterized by flexion contractures and bone fractures and shows strong clinical overlap with the brittle bone disease Osteogenesis Imperfecta. PLOD2 encodes the Lysyl hydroxylase 2 (LH2) enzyme, which is responsible for the hydroxylation of lysine residues in the type-I collagen telopeptides. This hydroxylation directs cross-linking of the collagen fibrils in t...